Abstract

In 2002, the U.S. Health Resources and Services Administration (HRSA) commissioned the American College of Medical Genetics (ACMG) to recommend a uniform newborn screening (NBS) panel. The ACMG sent out a survey to stakeholders to evaluate 80 metabolic and genetic conditions and 3 infectious diseases (Human Immunodeficiency Virus (HIV), Toxoplasmosis (Toxo), and Cytomegalovirus (CMV)). In March 2005, the ACMG/HRSA report recommended a panel including 29 metabolic and genetic conditions and 25 secondary targets. This panel was endorsed by the newly-formed U.S. Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (Advisory Committee). Decisions about infectious diseases were deferred by the ACMG/HRSA committee due to limited survey responses and lack of expertise of surveyed stakeholders and committee members. The Advisory Committee has not pursued these conditions further. In this manuscript, we examine the attitudes of U.S. pediatricians toward targeted and universal screening of newborns for these three infectious diseases. Members of the American Academy of Pediatrics (AAP) sections of infectious disease (n = 150) and community pediatrics (n = 150) plus 13 contributors to the AAP Red Book were surveyed by email or fax. Of eligible pediatricians, 113 of 297 (38%) returned surveys. Seventy-four percent supported either targeted or universal NBS for HIV, 57% for Toxo, but only 42% for CMV. The majority of respondents support screening newborns for HIV and Toxo. The Advisory Committee ought to solicit a systematic evaluation of these conditions to determine whether they should be included in the uniform panel.

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